HLA-C

Major histocompatibility complex, class I, C

Illustration of an HLA-C showing the HLA-B 'alpha' chain, ?2-Microglobulin, and the end of a peptide bound in the binding cleft.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsHLA-C ; D6S204; HLA-JY3; HLC-C; PSORS1
External IDsOMIM: 142840 HomoloGene: 133080 GeneCards: HLA-C Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez310714964
EnsemblENSG00000204525ENSMUSG00000073411
UniProtP10321P01899
RefSeq (mRNA)NM_001243042NM_010380.3
RefSeq (protein)NP_001229971NP_034510.3
Location (UCSC)Chr 6:
31.24 – 31.24 Mb		Chr 17:
35.26 – 35.27 Mb
PubMed search

HLA-C belongs to the MHC (human = HLA) class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA-C, are expressed in nearly all cells, and present small peptides to the immune system which surveys for non-self peptides.

HLA-C is a locus on chromosome 6, which encodes for a large number of HLA-C alleles that are Class-I MHC receptors. HLA-C, localized proximal to the HLA-B locus, is located on the distal end of the HLA region. Most HLA C:B haplotypes are in strong linkage disequilibrium and many are as ancient as the human species itself.

Disease associations

By serotype

Cw1: Multinodular goiters[1]

By allele

C*16: B chronic lymphocytic leukemia[2]

Nomenclature

C*01


C*02


C*03


C*04


C*05


C*06


C*08


C*12:02 to *12:15

C*14:02 to *14:05

C*15:01 to *15:11

C*16:01 to *16:06

C*17:01 to *17:03

C*18:01 and *18:02

Common Haplotype

Cw4-B35 (Western Africa to Native Americans) Cw7-B7 (Western Eurasia, South Africa) Cw7-B8 (Western Eurasia) Cw1-B46 (China, Indochina) Cw5-B44 (Western Eurasia)

Interactions

HLA-C has been shown to interact with:

References

  1. ↑ Ríos A, Rodríguez JM, Moya MR, Galindo PJ, Canteras M, Alvarez MR, Parrilla P (2006). "Associations of HLA-C alleles with multinodular goiters: study in a population from southeastern Spain.". Arch Surg 141 (2): 123–8. doi:10.1001/archsurg.141.2.123. PMID 16490887.
  2. ↑ Montes-Ares O, Moya-Quiles MR, Montes-Casado M, Guerra-Pérez N, Campillo JA, González C, López-Bermejo A, Tamayo M, Majado MJ, Parrado A, Muro M, Marín L, Alvarez-López MR (2006). "Human leucocyte antigen-C in B chronic lymphocytic leukaemia.". Br J Haematol 135 (4): 517–9. doi:10.1111/j.1365-2141.2006.06334.x. PMID 17054674.
  3. ↑ Boyson JE, Erskine R, Whitman MC, Chiu M, Lau JM, Koopman LA, Valter MM, Angelisova P, Horejsi V, Strominger JL (December 2002). "Disulfide bond-mediated dimerization of HLA-G on the cell surface". Proc. Natl. Acad. Sci. U.S.A. 99 (25): 16180–5. doi:10.1073/pnas.212643199. PMC 138585. PMID 12454284.
  4. ↑ Baba E, Erskine R, Boyson JE, Cohen GB, Davis DM, Malik P, Mandelboim O, Reyburn HT, Strominger JL (December 2000). "N-linked carbohydrate on human leukocyte antigen-C and recognition by natural killer cell inhibitory receptors". Hum. Immunol. 61 (12): 1202–18. doi:10.1016/s0198-8859(00)00184-1. PMID 11163076.
  5. ↑ Valés-Gómez M, Reyburn HT, Mandelboim M, Strominger JL (September 1998). "Kinetics of interaction of HLA-C ligands with natural killer cell inhibitory receptors". Immunity 9 (3): 337–44. doi:10.1016/s1074-7613(00)80616-0. PMID 9768753.
  6. ↑ Fan QR, Long EO, Wiley DC (May 2001). "Crystal structure of the human natural killer cell inhibitory receptor KIR2DL1-HLA-Cw4 complex". Nat. Immunol. 2 (5): 452–60. doi:10.1038/87766. PMID 11323700.
  7. ↑ Jones DC, Kosmoliaptsis V, Apps R, Lapaque N, Smith I, Kono A, Chang C, Boyle LH, Taylor CJ, Trowsdale J, Allen RL (March 2011). "HLA class I allelic sequence and conformation regulate leukocyte Ig-like receptor binding". J. Immunol. 186 (5): 2990–7. doi:10.4049/jimmunol.1003078. PMID 21270408.

Further reading

External links